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1.
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Am J Hum Genet
; 110(11): 1903-1918, 2023 11 02.
Article
in English
| MEDLINE | ID: mdl-37816352
2.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
3.
How I diagnose and treat neonatal thrombocytopenia.
Blood
; 141(22): 2685-2697, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36787503
4.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Blood
; 142(24): 2055-2068, 2023 12 14.
Article
in English
| MEDLINE | ID: mdl-37647632
5.
Epigenetic Regulation of F2RL3 Associates With Myocardial Infarction and Platelet Function.
Circ Res
; 130(3): 384-400, 2022 02 04.
Article
in English
| MEDLINE | ID: mdl-35012325
6.
Advances in understanding the pathogenesis of hereditary macrothrombocytopenia.
Br J Haematol
; 195(1): 25-45, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33783834
7.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31064749
8.
TEG PlateletMapping assay results may be misleading in the presence of cold stored platelets.
Transfusion
; 60 Suppl 3: S119-S123, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32478898
9.
Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders.
Semin Thromb Hemost
; 45(7): 685-694, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31041802
10.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood
; 129(4): 520-524, 2017 01 26.
Article
in English
| MEDLINE | ID: mdl-28064200
11.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Blood
; 130(8): 1026-1030, 2017 08 24.
Article
in English
| MEDLINE | ID: mdl-28637664
12.
Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Blood
; 128(14): 1879-1883, 2016 10 06.
Article
in English
| MEDLINE | ID: mdl-27436851
13.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Article
in English
| MEDLINE | ID: mdl-26912466
14.
VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.
Blood
; 126(2): 133-43, 2015 Jul 09.
Article
in English
| MEDLINE | ID: mdl-25947942
15.
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders.
Haematologica
; 102(7): 1192-1203, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28385783
16.
Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking.
Arterioscler Thromb Vasc Biol
; 36(5): 952-60, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26966273
17.
Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Blood
; 123(8): e11-22, 2014 Feb 20.
Article
in English
| MEDLINE | ID: mdl-24408324
18.
Dysfunction of the PI3 kinase/Rap1/integrin α(IIb)ß(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia.
Blood
; 121(7): 1209-19, 2013 Feb 14.
Article
in English
| MEDLINE | ID: mdl-23243278
19.
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Blood
; 121(15): 2943-51, 2013 Apr 11.
Article
in English
| MEDLINE | ID: mdl-23403622
20.
FLNA variants associated with disorders of platelet number or function.
Platelets
; 31(8): 1097-1100, 2020 11 16.
Article
in English
| MEDLINE | ID: mdl-32299270